About: Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.

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About: Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. Goto Sponge NotDistinct Permalink

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scientific article published on 17 September 2013

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description	videnskabelig artikel (da) article científic (ca) articol științific (ro) articolo scientifico (it) artigo científico (gl) artigo científico (pt) artigo científico (pt-br) artikull shkencor (sq) artículo científico (es) bilimsel makale (tr) scienca artikolo (eo) vedecký článok (sk) vetenskaplig artikel (sv) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научная статья (ru) научни чланак (sr) מאמר מדעי (he) artikel ilmiah (id) article scientifique (fr) বৈজ্ঞানিক নিবন্ধ (bn) artículu científicu espublizáu en 2013 (ast) наукова стаття, опублікована у вересні 2013 (uk) scientific article published on 17 September 2013 (en) scientific article published on 17 September 2013 (en-ca) scientific article published on 17 September 2013 (en-gb) مقالة علمية نشرت في 17 سبتمبر 2013 (ar)
publication date	wds:Q38150536-4FE18621-D203-41A9-9097-62706F7F6ABB
publication date	2013-09-17 00:00:00Z (xsd:dateTime)
cites work	wds:Q38150536-1B68DA95-296C-466E-810E-4DE0D021C3B9 wds:Q38150536-444A6608-2D1E-4F37-B937-D41FC11F0634 wds:Q38150536-45274D55-27B9-4797-B462-AA095E42F7CE wds:Q38150536-6CB9301A-E4E4-4A06-AFE8-7F1B79F93459 wds:Q38150536-717B1F31-F258-4826-A621-0B745EE0E209 wds:Q38150536-89AFC359-2D3B-4BC9-9ED0-7341BD638F31 wds:Q38150536-91110158-1447-453E-921F-936C37E783D0 wds:Q38150536-AE04A9C4-68D4-45CF-AC8D-D5BF62F83961 wds:Q38150536-C289441B-8E8E-447F-A9FA-1BAF495F65B1 wds:Q38150536-D72A582E-984A-4F9D-97E2-9B2C89DDD3A7 wds:Q38150536-E172994E-D5D5-4BF2-9B81-31CAEA6AF008 wds:Q38150536-F6995DC9-CE90-4839-BD36-22366502E904
cites work	Trends in the prevalence of developmental disabilities in US children, 1997-2008. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children Prevalence of developmental delays and participation in early intervention services for young children. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency Birth prevalence of disorders detectable through newborn screening by race/ethnicity. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
author name string	wds:Q38150536-15A82625-C102-4307-B773-644B54B90EC9 wds:Q38150536-5014EA61-4710-4251-9326-837E670D3D95 wds:Q38150536-6CB0E9E1-6199-482A-8D64-532C11857974 wds:Q38150536-7ACE9758-B96B-450B-A7F8-C028B1F9C2EA wds:Q38150536-7BCB5723-6A12-432A-92FA-B57A98F9D6BF wds:Q38150536-92525FB8-6A13-418A-B3AB-BE1B748C79BF wds:Q38150536-F5459865-C6F8-41FF-AB68-ED9DD0C68F9F
author name string	Stephen D Cederbaum Fred Lorey Christina Lam Jennifer M Carter Lisa Feuchtbaum Julie Neidich Natalie M Gallant
rdfs:label	Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (en) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (nl) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (ast)
skos:prefLabel	Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (en) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (nl) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (ast)
name	Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (en) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (nl) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. (ast)
author	wds:Q38150536-0C508F4C-B37C-49AA-84D5-4921EB1AE775
author	Derek Wong
title	wds:Q38150536-91F7E137-3BFF-4E91-AED4-0B3CB9F06E53
title	Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database (en)
page(s)	wds:Q38150536-65390CCC-FCBD-4AB1-B4D8-822EDF21F6CE
page(s)	477-483
instance of	wds:Q38150536-84C48495-C7FC-423B-BE5B-F3ADB8AD3AFE
instance of	scholarly article
main subject	wds:Q38150536-5709ECED-7EF2-4E16-97DB-038785F824C8 wds:Q38150536-698B8874-B600-4D79-A9EB-60306CA97931 wds:Q38150536-B4AE2C52-7C30-41EF-8987-B61777919E5D
main subject	California database 3-methylcrotonyl-CoA carboxylase deficiency
PubMed ID	wds:Q38150536-0FBDAA45-7985-4D03-B850-63826D602DF9
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/24103308
PubMed ID	24103308
published in	wds:Q38150536-4BEEFC51-811F-4CAD-8ECC-3D95CEA7D20E
published in	Molecular Genetics and Metabolism
issue	wds:Q38150536-AC143333-D67D-4C00-BD8B-207FD12BACF4

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